Entrez Gene ID | 11281 |
---|---|
Official Gene Symbol | POU6F2 (GeneCards) |
Full name | POU class 6 homeobox 2 |
Location | 7p14.1 |
Other ids | Vega : OTTHUMG00000150803 MIM : 609062 HGNC : HGNC:21694 Ensembl : ENSG00000106536 |
Other names | WT5, WTSL, RPF-1 |
Summary | This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009] |
Found 11 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
10388 | 11281 | POU6F2 | 7 | 39318999 | 39318999 | Asymptomatic | HiSeq X Ten |
10402 | 11281 | POU6F2 | 7 | 39511634 | 39511634 | Asymptomatic | HiSeq X Ten |
10600 | 11281 | POU6F2 | 7 | 39160758 | 39160758 | Asymptomatic | HiSeq X Ten |
10875 | 11281 | POU6F2 | 7 | 39124467 | 39124467 | Asymptomatic | HiSeq X Ten |
11103 | 11281 | POU6F2 | 7 | 39430166 | 39430166 | Asymptomatic | HiSeq X Ten |
11155 | 11281 | POU6F2 | 7 | 39305499 | 39305499 | Asymptomatic | HiSeq X Ten |
11396 | 11281 | POU6F2 | 7 | 39533810 | 39533810 | Cockayne syndrome | HiSeq X Ten |
11444 | 11281 | POU6F2 | 7 | 39539533 | 39539533 | Cockayne syndrome | HiSeq X Ten |
11557 | 11281 | POU6F2 | 7 | 39452354 | 39452354 | Xeroderma Pigmentosum | HiSeq X Ten |
26502 | 11281 | POU6F2 | 7 | 39561151 | 39561151 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
26503 | 11281 | POU6F2 | 7 | 39561153 | 39561153 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |